Product Details

SNP ID

hCV26698976

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:32982020 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCCTAACATTGAGATTGTTTAGTT[C/T]GCCACATGTTTATTGATGGTCTACT

Phenotype

MIM: 615470 MIM: 610884

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CEP89 PubMed Links

Gene Details

Gene

CEP89

Gene Name

centrosomal protein 89

There are no transcripts associated with this gene.

Gene

FAAP24

Gene Name

Fanconi anemia core complex associated protein 24

There are no transcripts associated with this gene.

Gene

RHPN2

Gene Name

rhophilin Rho GTPase binding protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_033103.4		Intron			NP_149094.3

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